Percutaneous coronary intervention of an anomalous coronary chronic total occlusion: The added value of three‐dimensional printing

Three‐dimensional (3D) printing has had an evolving role in cardiology, although has been largely reserved for planning of structural heart disease interventions. We present a case whereby multimodality imaging, including 3D printing, played a pivotal role in planning a technically feasible approach for complex percutaneous coronary intervention of a chronically occluded anomalous right coronary artery, with creation of a customized guide catheter.     

Chylomediastinum Following Tracheal Surgery

Fever of unknown origin (FUO) is a diagnostic challenge for the practising physician. Detailed medical history, physical examination, non-invasive laboratory tests, and radiologic examinations compose the first level in the diagnostic approach to the FUO. When a diagnosis cannot be established with these procedures, some invasive diagnostic techniques and finally exploratory laparotomy are performed. Although advanced diagnostic measures and imag-ing-guided less invasive procedures have decreased the need, laparotomy remains as a final diagnostic method for FUO cases. In this study we evaluate the role and importance of laparotomy in the diagnosis of our FUO cases. In 17 out of 126 patients (8 male, 9 female, the median age 35.8 years) hospitalized in our clinic between 1982 and 2002 with the diagnosis of FUO, the diagnosis was established by laparotomy. The diagnosis was made directly in 13 patients, and indirectly (by excluding other diseases) in 2 patients. In several FUO series, the contribution of laparotomy to the diagnosis of FUO was reported as 27-100%. This rate was found to be 88% in the present study. During laparotomy on 17 cases, tissue samples were taken from spleen, liver, intra-abdominal and mesenteric lymph nodes. Pathologic examination of these tissue samples revealed miliary tuberculosis in 4; non-Hodgkin’s lymphoma in 3; Hodgkin’s lymphoma in 3; liver tumour in 1; hairy cell leukemia in 1; peritonitis carcinomatosis in 1. In the patients with miliary tuberculosis, the liver (3) and/or spleen (2), and/or lymph node (3) revealed caseating granulomas. Laparotomy diagnosed 3 of 5 cases whose abdominal ultrasonography and computerized tomography were normal. In conclusion, although advanced diagnostic methods decreased the need for laparotomy in FUO, if non-invasive and invasive diagnostic measures fail, laparotomy may contribute to the diagnosis. The selection of the patient and the timing are important for laparotomy.     

发热待查75例临床分析

目的探讨不明原因发热(FUO)的病因和临床特征。方法回顾性分析2005年1月～2012年1月在我科住院且符合FUO诊断标准的75例患者的临床资料,总结了病因、诊断方法和临床表现。结果 75例患者中,68例(90.7%)最终确诊,感染性疾病22例(32.4%),其中结核病9例(40.9%)、传染性单核细胞增多症5例(22.7%);结缔组织病29例(42.6%),其中成人Still病17例(58.6%)、系统性红斑狼疮6例(20.7%);恶性肿瘤10例(14.7%),其中淋巴瘤6例(60.0%);其他疾病7例(10.3%),其中组织细胞坏死性淋巴结炎4例(57.1%)。结论 FUO涉及的病因众多,发病机制复杂,感染性疾病、结缔组织病仍是发热待查的主要原因,肿瘤性疾病在发热待查中也占相当的比例,临床工作中要开阔思路,全面搜集资料,以利于明确诊断。     

End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome

QTc for Assessing Significance of LQT Variants. Introduction: Genetic variants represent benign single‐nucleotide polymorphisms, disease causing mutations or variants of unknown significance (VUS). Resting, exercise, and recovery QTc intervals have been utilized to detect long‐QT syndrome (LQTS) mutations. We sought to provide clinical data that may assist in classifying the presented VUS as disease causing/benign and to determine whether resting and/or end‐recovery QT parameters can evaluate the significance of VUS. Methods and Results: Twenty‐six patients with a VUS in genes associated with LQTS (15 females, age 38 ± 16 years) and 26 age and gender matched controls (age 37 ± 20 years) were included. There were 10 VUS (5 KCNQ1, 4 KCNH2, 1 KCNE1) in 12 families. All but 1 VUS was associated with sudden cardiac death (SCD), aborted SCD or Torsade de pointes. A Schwartz score of ≥3.5 was observed in at least 1 family member with each VUS. Resting QTc was marginally longer in VUS patients compared with controls (458 ± 48 vs 437 ± 25, P = 0.052). A prolonged resting QTc (>470 ms males, >480 ms females) identified 6 VUS carriers and 1 control. VUS carriers had a substantially longer end‐recovery QTc (502 ± 68 vs 427 ± 17, P < 0.01) with an end‐recovery QTc > 445 ms in 20/26 VUS patients compared to 2/26 controls (P < 0.01). The area under the receiver operating characteristic curve for resting QTc was 0.68 (95% CI, 0.53–0.83, P = 0.03) compared to the end‐recovery QTc of 0.88 (95% CI, 0.76–0.99, P < 0.0001). Conclusion: Variants in the current study appear to be disease causing. The end‐recovery QTc is a useful metric when interpreting LQT VUS. (J Cardiovasc Electrophysiol, Vol. 23, pp. 637–642, June 2012)     

Loss of p53 cooperates with K‐ras activation to induce glioma formation in a region‐independent manner

Gliomas are recognized as a heterogeneous group of neoplasms differing in their location and morphological features. These differences, between and within varying grades of gliomas, have not been explained solely on the grounds of an oncogenic stimulus. Interactions with the tumor microenvironment as well as inherent characteristics of the cell of origin are likely a source of this heterogeneity. There is an ongoing debate over the cell of origin of gliomas, where some suggest a progenitor, while others argue for a stem cell origin. Thus, it is presumed that neurogenic regions of the brain such as the subventricular zone (SVZ) containing large numbers of neural stem and progenitor populations are more susceptible to transformation. Our studies demonstrate that K‐ras^G12D cooperates with the loss of p53 to induce gliomas from both the SVZ and cortical region, suggesting that cells in the SVZ are not uniquely gliomagenic. Using combinations of doxycycline‐inducible K‐ras^G12D and p53 loss, we show that tumors induced by the cooperative actions of these genes remain dependent on active K‐ras expression, as deinduction of K‐ras^G12D leads to complete tumor regression despite absence of p53. These results suggest that the interplay between specific combinations of genetic alterations and susceptible cell types, rather than the site of origin, are important determinates of gliomagenesis. Additionally, this model supports the view that, although several genetic events may be necessary to confer traits associated with oncogenic transformation, inactivation of a single oncogenic partner can undermine tumor maintenance, leading to regression and disease remission. GLIA 2013;61:1862–1872     

颅咽管瘤按发生位置分型和命名——附手术入路与切除方法

目的介绍按颅咽管瘤发生位置来分型方法,并探讨其临床价值。方法回顾性分析215例颅咽管瘤患者的临床资料,根据术前影像学资料、术中发现将颅咽管瘤划分为4种类型,即：Ⅰ型,鞍内颅咽管瘤;Ⅱ型,鞍上颅咽管瘤;Ⅲ型,室下颅咽管瘤;Ⅳ型,室前颅咽管瘤。结果59例Ⅰ型颅咽管瘤全部采用翼点入路切除肿瘤,全切除率为83.1%（49/59）;75例Ⅱ型颅咽管瘤中,74例采用翼点入路,1例采用翼点联合胼胝体入路,全切率为82.7%（62/75）;49例Ⅲ型颅咽管瘤,全部采用翼点入路,全切除率为93.9%（46/49）;32例Ⅳ型颅咽管瘤,全部采用胼胝体入路,全切除率为93.8%（30/32）。结论按发生位置来分型颅咽管瘤是可行的,并使其各自成为相对独立的疾病,更有利于在制定诊疗方案和疗效评价上达成共识。     

Children suspected of having intracranial infection with normal brain magnetic resonance imaging may be associated with the myelin oligodendrocyte glycoprotein antibody

PurposeTo confirm whether encephalitis due to unknown causes but with normal brain magnetic resonance imaging (MRI) may be associated with the myelin oligodendrocyte glycoprotein (MOG) antibody.MethodsWe retrospectively analyzed and summarized the characteristics of three patients initially suspected of having intracranial infections with normal brain MRI, and ultimately tested positive for anti-MOG antibody.ResultsThe three patients mainly presented with long-term fever accompanied by headaches and drowsiness. Auxiliary examinations showed obvious leukocytosis in peripheral blood and leukocytosis and increased protein expression in cerebrospinal fluid (CSF); furthermore, brain MRI was normal. These findings suggested intracranial infection, especially bacterial meningitis. No patient showed a response to prolonged anti-bacterial therapy; however, they recovered with glucocorticoid therapy, which was prescribed after anti-MOG antibodies were detected in the serum and CSF samples.ConclusionAnti-MOG antibody detection should be performed early for patients with suspected encephalitis due to unknown causes with normal brain MRI, to identify whether they have MOG antibody-associated diseases (MOGAD).